Structural variants (SV), usually defined as variation from kilobase to megabase including insertions, duplications, and inversions, presumably contribute to more base-pair differences between individuals than SNPs and have considerable effects on human phenotypic variation such as disease. Copy number variation (CNV), for example, is a type of structural variation exhibiting difference in copy number between two or more individuals. When fixed in population, it becomes what is known as Segmental Duplication (SD). Due to the biological significance and importance of SV implicated in recent findings, it has become one of the focuses in genetics lately. To this end, we have developed different experimental and computational approaches to detect and analyze SVs, particularly in the human genome.